Incidental Mutation 'R7918:Bank1'
| ID |
648169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bank1
|
| Ensembl Gene |
ENSMUSG00000037922 |
| Gene Name |
B cell scaffold protein with ankyrin repeats 1 |
| Synonyms |
A530094C12Rik |
| MMRRC Submission |
045966-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
135759124-136031827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135799123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 406
(I406T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041577]
[ENSMUST00000196159]
[ENSMUST00000198206]
|
| AlphaFold |
Q80VH0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041577
AA Change: I607T
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035484
Gene: ENSMUSG00000037922
AA Change: I607T
| Domain | Start | End | E-Value | Type |
|---|
|
DBB
|
197 |
327 |
1.24e-62 |
SMART |
|
Blast:ANK
|
341 |
371 |
7e-12 |
BLAST |
|
SCOP:d1awcb_
|
344 |
398 |
2e-4 |
SMART |
|
Blast:ANK
|
377 |
407 |
2e-6 |
BLAST |
|
coiled coil region
|
465 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
|
coiled coil region
|
560 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196159
AA Change: I474T
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142366
Gene: ENSMUSG00000037922
AA Change: I474T
| Domain | Start | End | E-Value | Type |
|---|
|
DBB
|
64 |
194 |
1.24e-62 |
SMART |
|
Blast:ANK
|
208 |
238 |
6e-12 |
BLAST |
|
SCOP:d1awcb_
|
211 |
265 |
1e-4 |
SMART |
|
Blast:ANK
|
244 |
274 |
3e-6 |
BLAST |
|
coiled coil region
|
332 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
|
coiled coil region
|
427 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198206
AA Change: I406T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142996
Gene: ENSMUSG00000037922
AA Change: I406T
| Domain | Start | End | E-Value | Type |
|---|
|
DBB
|
64 |
194 |
5.9e-67 |
SMART |
|
Blast:ANK
|
208 |
238 |
5e-12 |
BLAST |
|
SCOP:d1awcb_
|
211 |
265 |
1e-4 |
SMART |
|
Blast:ANK
|
244 |
274 |
2e-6 |
BLAST |
|
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
coiled coil region
|
359 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198354
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased germinal center formation and IgM production in response to T-dependent antigens, and show enhanced CD40-mediated B cell proliferative and survival responses. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
G |
A |
5: 130,413,269 (GRCm39) |
T30I |
unknown |
Het |
| Adam21 |
A |
G |
12: 81,607,378 (GRCm39) |
V128A |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,566 (GRCm39) |
Y308C |
probably damaging |
Het |
| Adam26b |
A |
G |
8: 43,974,138 (GRCm39) |
V288A |
probably benign |
Het |
| Ankrd29 |
A |
C |
18: 12,428,979 (GRCm39) |
L30R |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,334,856 (GRCm39) |
I817T |
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,938,564 (GRCm39) |
F31L |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,690,986 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
C |
3: 144,619,033 (GRCm39) |
Y702C |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,728,508 (GRCm39) |
I655V |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,747,147 (GRCm39) |
E1486G |
probably damaging |
Het |
| Epha8 |
A |
G |
4: 136,661,877 (GRCm39) |
F573L |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,691,840 (GRCm39) |
N323S |
probably benign |
Het |
| Exoc6b |
C |
T |
6: 85,046,332 (GRCm39) |
R19Q |
probably damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,502 (GRCm39) |
*182R |
probably null |
Het |
| Ighv9-2 |
T |
C |
12: 114,072,911 (GRCm39) |
I21V |
probably benign |
Het |
| Ints2 |
G |
A |
11: 86,113,043 (GRCm39) |
T825M |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,757,454 (GRCm39) |
T398A |
probably benign |
Het |
| Lrfn2 |
T |
C |
17: 49,378,212 (GRCm39) |
V431A |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,292,732 (GRCm39) |
I79M |
possibly damaging |
Het |
| Nup107 |
A |
G |
10: 117,617,905 (GRCm39) |
V171A |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,923 (GRCm39) |
F119S |
probably damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,103 (GRCm39) |
Y35* |
probably null |
Het |
| Or8g37 |
C |
A |
9: 39,731,406 (GRCm39) |
T157K |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,622,539 (GRCm39) |
K1557* |
probably null |
Het |
| Plat |
C |
T |
8: 23,263,655 (GRCm39) |
P185S |
probably damaging |
Het |
| Plcg1 |
T |
G |
2: 160,595,585 (GRCm39) |
V511G |
probably damaging |
Het |
| Plxnb3 |
C |
T |
X: 72,811,251 (GRCm39) |
A1258V |
probably benign |
Het |
| Rnf223 |
T |
C |
4: 156,217,240 (GRCm39) |
V205A |
probably benign |
Het |
| Slc13a1 |
G |
C |
6: 24,118,065 (GRCm39) |
T224R |
probably benign |
Het |
| Slc39a10 |
T |
A |
1: 46,874,912 (GRCm39) |
H130L |
possibly damaging |
Het |
| Sucnr1 |
T |
A |
3: 59,993,790 (GRCm39) |
I106N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,708,170 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,309,078 (GRCm39) |
I644V |
possibly damaging |
Het |
| Tbc1d8 |
A |
C |
1: 39,441,809 (GRCm39) |
F261C |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,336,116 (GRCm39) |
Y1066C |
probably damaging |
Het |
| Trip12 |
A |
C |
1: 84,722,784 (GRCm39) |
I1322S |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,571,167 (GRCm39) |
I676V |
probably benign |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,236 (GRCm39) |
Y226* |
probably null |
Het |
| Vmn2r63 |
G |
C |
7: 42,552,955 (GRCm39) |
A767G |
probably damaging |
Het |
| Wdr5b |
A |
G |
16: 35,862,192 (GRCm39) |
T104A |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,930,504 (GRCm39) |
V151A |
possibly damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,653,189 (GRCm39) |
F31S |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,279 (GRCm39) |
C340S |
possibly damaging |
Het |
| Zmym4 |
T |
A |
4: 126,804,797 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Bank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Bank1
|
APN |
3 |
135,953,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03088:Bank1
|
APN |
3 |
135,799,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03190:Bank1
|
APN |
3 |
135,806,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2289:Bank1
|
UTSW |
3 |
135,760,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Bank1
|
UTSW |
3 |
135,806,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Bank1
|
UTSW |
3 |
135,772,279 (GRCm39) |
splice site |
probably benign |
|
|
R0423:Bank1
|
UTSW |
3 |
135,989,778 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0518:Bank1
|
UTSW |
3 |
135,919,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Bank1
|
UTSW |
3 |
135,919,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0587:Bank1
|
UTSW |
3 |
135,919,798 (GRCm39) |
splice site |
probably benign |
|
|
R0628:Bank1
|
UTSW |
3 |
135,772,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Bank1
|
UTSW |
3 |
135,760,164 (GRCm39) |
splice site |
probably null |
|
|
R0811:Bank1
|
UTSW |
3 |
135,799,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Bank1
|
UTSW |
3 |
135,799,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Bank1
|
UTSW |
3 |
135,989,625 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1446:Bank1
|
UTSW |
3 |
135,769,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Bank1
|
UTSW |
3 |
135,919,602 (GRCm39) |
nonsense |
probably null |
|
|
R1636:Bank1
|
UTSW |
3 |
135,788,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Bank1
|
UTSW |
3 |
135,799,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Bank1
|
UTSW |
3 |
135,960,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1751:Bank1
|
UTSW |
3 |
135,940,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2023:Bank1
|
UTSW |
3 |
136,031,679 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2851:Bank1
|
UTSW |
3 |
135,948,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2852:Bank1
|
UTSW |
3 |
135,948,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3411:Bank1
|
UTSW |
3 |
135,953,534 (GRCm39) |
splice site |
probably benign |
|
|
R4422:Bank1
|
UTSW |
3 |
135,788,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4499:Bank1
|
UTSW |
3 |
135,990,004 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4693:Bank1
|
UTSW |
3 |
135,953,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4744:Bank1
|
UTSW |
3 |
135,953,450 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4791:Bank1
|
UTSW |
3 |
135,960,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Bank1
|
UTSW |
3 |
135,990,004 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4967:Bank1
|
UTSW |
3 |
135,772,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Bank1
|
UTSW |
3 |
135,960,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5119:Bank1
|
UTSW |
3 |
135,940,443 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5284:Bank1
|
UTSW |
3 |
135,769,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5547:Bank1
|
UTSW |
3 |
135,772,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5610:Bank1
|
UTSW |
3 |
135,772,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Bank1
|
UTSW |
3 |
135,919,598 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6087:Bank1
|
UTSW |
3 |
135,772,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Bank1
|
UTSW |
3 |
135,799,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Bank1
|
UTSW |
3 |
135,948,701 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6861:Bank1
|
UTSW |
3 |
135,960,764 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7013:Bank1
|
UTSW |
3 |
135,806,270 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7436:Bank1
|
UTSW |
3 |
135,761,561 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8262:Bank1
|
UTSW |
3 |
135,948,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8321:Bank1
|
UTSW |
3 |
135,940,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8822:Bank1
|
UTSW |
3 |
135,809,640 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8937:Bank1
|
UTSW |
3 |
135,989,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Bank1
|
UTSW |
3 |
135,772,264 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9010:Bank1
|
UTSW |
3 |
135,761,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9069:Bank1
|
UTSW |
3 |
135,989,772 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9327:Bank1
|
UTSW |
3 |
135,799,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
V1662:Bank1
|
UTSW |
3 |
135,760,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGTCTTCTATAAACCAAGGG -3'
(R):5'- TGATCTCAATGCAAGACCAGAG -3'
Sequencing Primer
(F):5'- TGGTAGCTCTTTCAAAGGACCCAG -3'
(R):5'- GATCTCAATGCAAGACCAGAGACAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation